Reply to Happle

Houge, Gunnar; Hennekam, Raoul C. M.

doi:10.1038/ejhg.2009.49

Cited by 2 publications

(2 citation statements)

References 4 publications

(4 reference statements)

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“…From our study, linear skin lesions/pigmentations combined with dermal atrophy/hypoplasia dermal findings do not seem to be sufficient to screen for PORCN mutations. However, mutation analysis of PORCN gene should also be considered in patients with characteristic isolated skin abnormalities, as has been discussed very recently regarding patients with angioma serpiginosum or FDH (16–18). No mutations were found in FIN3, FIN4, FIN5 and BEL2 although some had also sparse hair (Table 1) and mild short stature (–2SD in FIN3 and FIN4).…”

Section: Discussionmentioning

confidence: 95%

Novel PORCN mutations in focal dermal hypoplasia

Froyen¹,

Govaerts²,

Esch³

et al. 2009

Clinical Genetics

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Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next, we sequenced the coding regions and flanking intronic sequences of the PORCN gene. Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T>G (p.L331R) in exon 11 and c.1094G>A (p.R365Q) in exon 13 of the gene. Both point mutations changed highly conserved amino acids and were not found in 300 control X chromosomes. The three patients in whom mutations were identified all present with characteristic dermal findings together with limb manifestations, which were not seen in our mutation-negative patients. The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes.

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Section: Discussionmentioning

confidence: 95%

Novel PORCN mutations in focal dermal hypoplasia

Froyen¹,

Govaerts²,

Esch³

et al. 2009

Clinical Genetics

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“…a historical review or letter to the editor. For example, in a letter to the editor in response to criticism of their published findings, Hough & Hennekam (2009) made the following statement:” The chance discovery of concomitant non‐symptomatic esophageal papillomatosis was a major additional clue for this.”…”

Section: Resultsmentioning

confidence: 99%

Looking for opportunistic discovery of information in recent biomedical research – a content analysis

Allen

Erdelez

Marinov

2013

Proc of Assoc for Info

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The most exciting phrase to hear in science, the one that heralds new discoveries, is not 'Eureka!' but 'That's funny...' -Isaac AsimovFrom the discovery of penicillin and x-rays to the development of many of today's chemotherapy agents, serendipitous findings tangential to the researcher's intended purpose, those "That's funny…" moments, have greatly impacted the health and well-being of society. As an information behavior, these unexpected findings are an example of the Opportunistic Discovery of Information (ODI). ODI has been described in many contexts, from information behavior in virtual worlds to the impact of information encountering on health behaviors. Yet, little is known about instances of ODI within the context of scientific research. This study uses content analysis to reveal reported instances of ODI in recently published biomedical literature. Our findings propose a taxonomy of term use indicating the presence of serendipity in the research process and reveal the relationship between the authors' word choice for serendipity and specific types of ODI experiences.

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Reply to Happle

Cited by 2 publications

References 4 publications

Novel PORCN mutations in focal dermal hypoplasia

Novel PORCN mutations in focal dermal hypoplasia

Looking for opportunistic discovery of information in recent biomedical research – a content analysis

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